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13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.

Abstract：

:Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects. We report on a 24-year-old woman with a syndromic form of tetralogy of Fallot who was found to have a novel de novo deletion of the proximal long arm of chromosome 13. History of developmental delay and learning difficulties, mild dysmorphic facial features, and anal atresia prompted genetic investigations. A review of the literature on deletions that overlap this region showed that several were associated with major congenital heart defects. The results suggest that the 13q13.1-q13.2 region may harbour a gene or genes important in cardiac development.

journal_name

Int J Cardiol

journal_title

International journal of cardiology

authors

Costain G,Silversides CK,Marshall CR,Shago M,Costain N,Bassett AS

doi

10.1016/j.ijcard.2010.05.070

subject

Has Abstract

pub_date

2011-01-21 00:00:00

pages

134-9

issue

2

eissn

0167-5273

issn

1874-1754

pii

S0167-5273(10)00467-5

journal_volume

146

pub_type

杂志文章,评审

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